Polyglutamines, nuclear inclusions and neurodegeneration

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

Clinical genetics·2013

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.

Ophthalmic genetics·2011

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Human genetics·2010

Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.

Growth hormone & IGF research : official journal of the Growth Hormone Research Society and the International IGF Research Society·2004

The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.

Biochemistry·2003

The Fragile X mental retardation protein.

Brain research bulletin·2001

Immunotherapy with a short-lived anti-PD-L1 antibody in Alzheimer's disease: a phase 1b, randomized, double-blind trial.

Nature medicine·2026

Oligonucleotide-siRNA conjugate for SOD1 amyotrophic lateral sclerosis: a phase 1 trial.

Nature medicine·2026

An anti-PMEL antibody-drug conjugate with a Gq/11 inhibitor payload in GNAQ/GNA11-mutant melanomas: a phase 1 trial.

Nature medicine·2026

Anti-LAG-3 with or without anti-PD-1 in recurrent glioblastoma: a phase 1 trial.

Nature medicine·2026

Health system learning enables generalist neuroimaging models.

Nature medicine·2026

KRAS-G12D inhibitor HRS-4642 plus chemotherapy in advanced KRASG12D-mutant pancreatic cancer: a phase 1b/2 trial.

Nature medicine·2026

White Matter Functional Dysregulation in Amyotrophic Lateral Sclerosis: Machine Learning-Based Biomarkers and Transcriptomic Signatures.

Current neuropharmacology·2026

Combined bidirectional spinal cord stimulation for refractory neuropathic pelvic pain: a case report.

Frontiers in pain research (Lausanne, Switzerland)·2026

Neurovascular unit uncoupling in diabetic retinopathy: molecular mechanisms and stage-adapted therapeutic strategies.

Frontiers in endocrinology·2026

Late-onset ornithine transcarbamylase deficiency with neurological damage and serial brain multimodality monitoring: a case report.

Frontiers in medicine·2026

The influence of magnesium ions on the electrophysiological, analgesic, and BDNF-induced neuromodulation of morphine effects in diabetic rats.

Frontiers in pharmacology·2026

Risk factors of nasogastric tube removal failure in acute ischemic stroke patients: a 3-months follow-up cohort study at a single institute.

Frontiers in neurology·2026

Related Experiment Videos

Polyglutamines, nuclear inclusions and neurodegeneration

Related Concept Videos

Clinical and genetic characterization of Bardet-Biedl syndrome in Tunisia: defining a strategy for molecular diagnosis.

Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.

Identification of 28 novel mutations in the Bardet-Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease.

Fragile X mental retardation syndrome: from pathogenesis to diagnostic issues.

The N-terminus of the fragile X mental retardation protein contains a novel domain involved in dimerization and RNA binding.

The Fragile X mental retardation protein.

Immunotherapy with a short-lived anti-PD-L1 antibody in Alzheimer's disease: a phase 1b, randomized, double-blind trial.

Oligonucleotide-siRNA conjugate for SOD1 amyotrophic lateral sclerosis: a phase 1 trial.

An anti-PMEL antibody-drug conjugate with a Gq/11 inhibitor payload in GNAQ/GNA11-mutant melanomas: a phase 1 trial.

Anti-LAG-3 with or without anti-PD-1 in recurrent glioblastoma: a phase 1 trial.

Health system learning enables generalist neuroimaging models.

KRAS-G12D inhibitor HRS-4642 plus chemotherapy in advanced KRASG12D-mutant pancreatic cancer: a phase 1b/2 trial.

White Matter Functional Dysregulation in Amyotrophic Lateral Sclerosis: Machine Learning-Based Biomarkers and Transcriptomic Signatures.

Combined bidirectional spinal cord stimulation for refractory neuropathic pelvic pain: a case report.

Neurovascular unit uncoupling in diabetic retinopathy: molecular mechanisms and stage-adapted therapeutic strategies.

Late-onset ornithine transcarbamylase deficiency with neurological damage and serial brain multimodality monitoring: a case report.

The influence of magnesium ions on the electrophysiological, analgesic, and BDNF-induced neuromodulation of morphine effects in diabetic rats.

Risk factors of nasogastric tube removal failure in acute ischemic stroke patients: a 3-months follow-up cohort study at a single institute.

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Polyglutamines, nuclear inclusions and neurodegeneration

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